Data Load

We are currently focusing on the BRCA1 gene and its association with the breast cancer phenotype. Below, we load the variant file for the BRCA1 phenotype, sourced from Genebass: here

variant_id consequence hgvsp pval beta allele_count homozygote_count allele_number allele_frequency Protein
17-43057062-T-TG frameshift_variant ENSP00000418960.2:p.Gln1777ProfsTer74 0.0000020 4.308528 13 0 735902 1.77e-05 p.Gln1777ProfsTer74
17-43091771-TAGAC-T frameshift_variant ENSP00000418960.2:p.Ser1253ArgfsTer10 0.0000075 4.660549 9 0 735848 1.22e-05 p.Ser1253ArgfsTer10
17-43092196-TCTTG-T frameshift_variant ENSP00000418960.2:p.Gln1111AsnfsTer5 0.0000232 3.497295 12 0 735894 1.63e-05 p.Gln1111AsnfsTer5
17-43091462-CTTGA-C frameshift_variant ENSP00000418960.2:p.Asn1355LysfsTer10 0.0003945 2.642067 40 0 735922 5.44e-05 p.Asn1355LysfsTer10
17-43092848-GTT-G frameshift_variant ENSP00000418960.2:p.Lys894ThrfsTer8 0.0019181 2.539163 21 0 735926 2.85e-05 p.Lys894ThrfsTer8
17-43045767-G-A stop_gained ENSP00000418960.2:p.Arg1856Ter 0.0019800 2.540251 14 0 735916 1.90e-05 p.Arg1856Ter

Loading Mave Information

gene id aapos aaref aaalt ProteinChange FUSE_score norm_raw_score FUSE_score_scaled_study norm_raw_score_scaled_study pos_score raw_score Transcript_hg38 Transcript_hg38_ensembl Protein_hg38 Protein_hg38_ensembl Gene_hg38_ensembl_gene Uniprot_id Variant.Type Protein
BRCA1 urn:mavedb:00000003-a-2 2 D A BRCA1:p.Asp2Ala -0.0774067 -0.7624165 0.5423243 0.3948380 -0.2364796 -1.5464907 NM_007294.3,NM_007300.3 ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 ENSP00000326002,ENSP00000350283,ENSP00000418960,ENSP00000419103,ENSP00000419274 ENSG00000012048 P38398 missense p.Asp2Ala
BRCA1 urn:mavedb:00000003-a-2 2 D C BRCA1:p.Asp2Cys -0.1532701 NA 0.5312132 NA -0.2364796 NA NM_007294.3,NM_007300.3 ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 ENSP00000326002,ENSP00000350283,ENSP00000418960,ENSP00000419103,ENSP00000419274 ENSG00000012048 P38398 missense p.Asp2Cys
BRCA1 urn:mavedb:00000003-a-2 2 D D BRCA1:p.Asp2Asp 0.4353967 NA 0.6174306 NA -0.2364796 NA NM_007294.3,NM_007300.3 ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 ENSP00000326002,ENSP00000350283,ENSP00000418960,ENSP00000419103,ENSP00000419274 ENSG00000012048 P38398 synonymous p.Asp2Asp
BRCA1 urn:mavedb:00000003-a-2 2 D E BRCA1:p.Asp2Glu 0.1712392 -0.2758819 0.5787415 0.4545809 -0.2364796 -0.9499942 NM_007294.3,NM_007300.3 ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 ENSP00000326002,ENSP00000350283,ENSP00000418960,ENSP00000419103,ENSP00000419274 ENSG00000012048 P38398 missense p.Asp2Glu
BRCA1 urn:mavedb:00000003-a-2 2 D F BRCA1:p.Asp2Phe -0.3428899 NA 0.5034411 NA -0.2364796 NA NM_007294.3,NM_007300.3 ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 ENSP00000326002,ENSP00000350283,ENSP00000418960,ENSP00000419103,ENSP00000419274 ENSG00000012048 P38398 missense p.Asp2Phe
BRCA1 urn:mavedb:00000003-a-2 2 D G BRCA1:p.Asp2Gly -0.0562279 -0.5176325 0.5454262 0.4248957 -0.2364796 -1.2463829 NM_007294.3,NM_007300.3 ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 ENSP00000326002,ENSP00000350283,ENSP00000418960,ENSP00000419103,ENSP00000419274 ENSG00000012048 P38398 missense p.Asp2Gly

Total proteins analyzed: 128.

Correlation Between Mave Raw Score and Beta

The association between Mave raw score and Beta for BRCA1 Breast Cancer is weak and anti-correlated.

Correlation Between Mave Normalized Raw Score and Beta

A similar weak correlation is observed between Mave normalized raw score and Beta for BRCA1 Breast Cancer.

Correlation Between Mave Fuse Score and Beta

The relationship between Mave Fuse score and Beta for BRCA1 Breast Cancer is weak and negatively correlated.

Correlation Between Mave Scaled Study FUSE Score and Beta

Similar correlation exists between Mave scaled study FUSE score and Beta for BRCA1 for Breast Cancer.